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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EFCAB13-DT, ITGB3
(A737T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EFCAB13-DT, ITGB3
(T746P)
Single nucleotide variant
(missense variant)
Bleeding disorder, platelet-type, 24
GUncertain significance
EFCAB13-DT, ITGB3
(H748P)
Single nucleotide variant
(missense variant)
Bleeding disorder, platelet-type, 24
GUncertain significance
EFCAB13-DT, ITGB3
(R760C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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